Variant report

Variant	rs2314650
Chromosome Location	chr2:97564284-97564285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97522291..97526078-chr2:97561305..97564829,3	K562	blood:
2	chr2:97481720..97483625-chr2:97563695..97565331,2	MCF-7	breast:
3	chr2:97562462..97564886-chr2:97613357..97616382,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163126	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169387	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10182668	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10182965	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11677797	0.83[AMR][1000 genomes]
rs11694296	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12613171	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs13383845	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs13410790	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs13421275	0.85[AMR][1000 genomes]
rs13423092	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs13425281	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28687044	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4907203	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4907204	0.92[AMR][1000 genomes]
rs4907205	0.90[AMR][1000 genomes]
rs4907206	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4907256	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4907257	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4907258	0.92[AMR][1000 genomes]
rs4907259	0.90[AMR][1000 genomes]
rs4907260	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61382911	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97556400-97565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:97556600-97566000	Enhancers	Fetal Thymus	thymus
3	chr2:97558200-97572200	Weak transcription	Right Atrium	heart
4	chr2:97558600-97566200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:97559600-97565800	Enhancers	HSMM	muscle
6	chr2:97560600-97566600	Enhancers	Placenta	Placenta
7	chr2:97560800-97565400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:97561000-97565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:97561000-97565400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:97561000-97565800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:97561200-97566800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:97561200-97566800	Enhancers	Spleen	Spleen
13	chr2:97561600-97564800	Enhancers	K562	blood
14	chr2:97561600-97565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:97561600-97572200	Weak transcription	Psoas Muscle	Psoas
16	chr2:97561800-97564400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:97561800-97572000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:97562000-97564600	Weak transcription	Right Ventricle	heart
19	chr2:97562000-97572200	Weak transcription	Gastric	stomach
20	chr2:97562200-97564600	Weak transcription	HSMMtube	muscle
21	chr2:97562200-97564800	Weak transcription	Fetal Lung	lung
22	chr2:97562200-97564800	Weak transcription	Stomach Mucosa	stomach
23	chr2:97562200-97565600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:97562200-97569200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:97562400-97564400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:97562400-97564800	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:97562400-97564800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:97562400-97565400	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:97562400-97569200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:97562400-97569200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:97562400-97572000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:97562400-97572000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:97562600-97564400	Weak transcription	Primary T cells from cord blood	blood
34	chr2:97562600-97564800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:97562600-97569200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:97562600-97569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:97562600-97569200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:97562600-97569600	Weak transcription	Fetal Brain Female	brain
39	chr2:97562800-97564400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:97562800-97565200	Enhancers	HMEC	breast
41	chr2:97563000-97564800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:97563000-97564800	Weak transcription	Thymus	Thymus
43	chr2:97563000-97566000	Enhancers	Lung	lung
44	chr2:97563200-97565200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:97563200-97565400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr2:97563200-97566000	Enhancers	Esophagus	oesophagus
47	chr2:97563400-97564600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:97563400-97564600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:97563400-97565000	Weak transcription	Ovary	ovary
50	chr2:97563400-97565400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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